2025 Shannon O’Boyle Memorial Grant Awardee
We have exciting news to share with our Phelan-McDermid syndrome community! This year’s PMSF research grant will help drive groundbreaking science…
Posts about advances in Phelan-McDermid syndrome research
PYC Therapeutics Update – Progress on RNA-Based Therapy for Phelan-McDermid Syndrome
The Phelan-McDermid Syndrome Foundation is committed to keeping our community informed about the latest scientific and medical research, including progress in…
Bridging Science and Hope: Updates on the 2024 PMSF Research Grants
By Meagan HutchinsonIn 2024, the Phelan-McDermid Syndrome Foundation awarded three research grants aimed not only at funding discovery but also changing…
“Mini-Brains” and SHANK3—A New Way to Study Phelan-McDermid Syndrome in the Lab
By Meagan Hutchinson Click here to read the full publication Summary: Many parts of brain development are difficult for scientists to…
Conference Updates from Dr. Lauren
Earlier this spring, Dr. Lauren traveled to the Gatlinburg Conference in San Diego, CA, and the International Society for Autism Research…
Diagnosing the Undiagnosed: PMSF Partnering with BioLogic Pharma Solutions to Help Improve SHANK3 Testing
https://www.healthshots.com/brand-stories/biologic-calls-for-better-genetic-testing-at-acmg-2025/BioLogic Pharma Solutions, in partnership with Neuren Pharmaceuticals, has been on the conference tour this spring to share their research revealing…
Breaking Down NIH Funding for Research
With a past annual budget of nearly $50 billion (yes, that’s with a B!), the National Institute of Health (NIH) is…
Class I vs. Class II Deletions: What’s the Difference?
In Phelan-McDermid syndrome, you are likely familiar with the terminology and differences between SHANK3 deletions, SHANK3 variations, and even ring chromosomes.…
PYC Therapeutics Webinar Takeaways
We are so grateful to PYC Therapeutics for their informative webinar on PYC-002, an RNA-based gene therapy, held on March 13,…
2023 PMSF Grant Awardees – Round-Up
Over the past month, I’ve had the opportunity to interview each of our 2023 PMSF Grant Awardees for our podcast, The…